R27P (p.Arg27Pro) variant of EPAS1 (Q99814)
R27P (p.Arg27Pro) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- gnomAD 2-46346926-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.70
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available